Mutagenetix > Incidental Mutation

Incidental Mutation 'R6727:Fem1b'

529915

Institutional Source

Beutler Lab

Gene Symbol

Fem1b

Ensembl Gene

ENSMUSG00000032244

Gene Name

fem 1 homolog b

Synonyms

MMRRC Submission

044845-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6727 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

62699106-62718930 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 62704015 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 415 (V415A)

Ref Sequence

ENSEMBL: ENSMUSP00000034775 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034775]

AlphaFold

Q9Z2G0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034775
AA Change: V415A

PolyPhen 2 Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000034775
Gene: ENSMUSG00000032244
AA Change: V415A

Domain	Start	End	E-Value	Type
ANK	45	74	6.81e-3	SMART
ANK	87	116	6.65e-6	SMART
ANK	120	149	8.39e-3	SMART
ANK	153	182	8.91e-7	SMART
ANK	186	215	4.13e-2	SMART
ANK	218	246	6.71e-2	SMART
ANK	483	527	1.72e1	SMART
ANK	531	570	6.05e2	SMART

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 96.1%

Validation Efficiency

98% (44/45)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an ankyrin repeat protein that belongs to the death receptor-associated family of proteins and plays a role in mediating apoptosis. The encoded protein is also thought to function in the replication stress-induced checkpoint signaling pathway via interaction with checkpoint kinase 1. [provided by RefSeq, Aug 2013]
PHENOTYPE: Homozygous targeted mutants display abnormal glucose tolerance due to defective glucose-stimulated insulin secretion. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010109A12Rik	A	G	5: 93,354,434 (GRCm39)		probably benign	Het
4930563M21Rik	C	T	9: 55,896,760 (GRCm39)	V283I	possibly damaging	Het
Acot11	C	T	4: 106,617,327 (GRCm39)	G240R	probably damaging	Het
Allc	T	A	12: 28,607,388 (GRCm39)	H288L	probably damaging	Het
Atg16l1	T	C	1: 87,702,576 (GRCm39)	I279T	possibly damaging	Het
Atp6v1b1	A	G	6: 83,728,857 (GRCm39)		probably benign	Het
Barhl1	G	A	2: 28,805,495 (GRCm39)	P66L	probably benign	Het
Brd8dc	T	A	18: 34,713,894 (GRCm39)	M244L	probably benign	Het
Cfap58	A	T	19: 47,943,856 (GRCm39)	D352V	probably benign	Het
Cyp3a44	T	A	5: 145,731,781 (GRCm39)	K122*	probably null	Het
Dnai1	G	T	4: 41,625,308 (GRCm39)	R424L	probably benign	Het
Dync1li2	G	T	8: 105,167,167 (GRCm39)	H79Q	probably damaging	Het
Fgb	C	T	3: 82,954,094 (GRCm39)	S48N	possibly damaging	Het
Gm5624	T	C	14: 44,799,332 (GRCm39)	D31G	possibly damaging	Het
Gzmn	T	A	14: 56,403,432 (GRCm39)	I226F	probably damaging	Het
H2-T5	A	T	17: 36,476,622 (GRCm39)	V284E	probably damaging	Het
Il31ra	T	C	13: 112,683,902 (GRCm39)	S184G	probably damaging	Het
Insrr	C	T	3: 87,720,873 (GRCm39)	R1044C	probably damaging	Het
Kcnj15	A	G	16: 95,097,193 (GRCm39)	S272G	probably damaging	Het
Kcnk16	C	T	14: 20,312,997 (GRCm39)	A106T	probably benign	Het
Kmt2b	A	G	7: 30,283,984 (GRCm39)	V876A	probably damaging	Het
Large2	G	T	2: 92,201,215 (GRCm39)		probably benign	Het
Maml2	A	T	9: 13,532,847 (GRCm39)		probably benign	Het
Me1	A	G	9: 86,464,851 (GRCm39)	L533P	possibly damaging	Het
Muc16	A	G	9: 18,477,986 (GRCm39)		probably null	Het
Nova2	C	A	7: 18,692,419 (GRCm39)	T516K	probably damaging	Het
Or1l4	T	A	2: 37,092,118 (GRCm39)	N288K	probably damaging	Het
Or56b1	T	C	7: 104,285,094 (GRCm39)	I71T	probably damaging	Het
Otogl	G	A	10: 107,612,978 (GRCm39)		silent	Het
Ppp2r1a	T	A	17: 21,176,087 (GRCm39)	V103E	probably benign	Het
Prl3d3	G	A	13: 27,341,147 (GRCm39)		probably null	Het
Rhbdf1	G	T	11: 32,164,042 (GRCm39)	A288E	possibly damaging	Het
Rnf213	T	C	11: 119,321,147 (GRCm39)	S1202P	possibly damaging	Het
Slc25a17	A	G	15: 81,222,154 (GRCm39)	V106A	probably benign	Het
Slc4a4	T	G	5: 89,318,624 (GRCm39)	S640A	probably benign	Het
Smc4	T	A	3: 68,924,105 (GRCm39)	Y298N	probably damaging	Het
Tek	G	T	4: 94,741,732 (GRCm39)	G830*	probably null	Het
Tgfb1	A	T	7: 25,388,587 (GRCm39)		probably benign	Het
Themis	T	C	10: 28,657,903 (GRCm39)	I157T	probably damaging	Het
Trmt12	A	G	15: 58,744,514 (GRCm39)		probably benign	Het
Trrap	T	C	5: 144,793,760 (GRCm39)	W3654R	probably damaging	Het
Tspan3	C	T	9: 56,054,724 (GRCm39)	G108S	probably damaging	Het
Ugt1a10	T	A	1: 87,983,979 (GRCm39)		probably null	Het
Vps13b	A	G	15: 35,770,829 (GRCm39)	K2091E	probably benign	Het
Wdr62	A	T	7: 29,971,045 (GRCm39)	V184D	probably damaging	Het
Zfp958	C	A	8: 4,678,247 (GRCm39)	Q90K	probably benign	Het

Other mutations in Fem1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00811:Fem1b	APN	9	62,704,201 (GRCm39)	missense	probably damaging	1.00
IGL01306:Fem1b	APN	9	62,704,810 (GRCm39)	missense	possibly damaging	0.69
IGL02059:Fem1b	APN	9	62,703,446 (GRCm39)	missense	possibly damaging	0.57
IGL02292:Fem1b	APN	9	62,703,977 (GRCm39)	missense	probably benign	0.00
IGL03390:Fem1b	APN	9	62,704,246 (GRCm39)	missense	probably benign	0.01
physeter	UTSW	9	62,704,916 (GRCm39)	missense	probably damaging	0.99
ANU23:Fem1b	UTSW	9	62,704,810 (GRCm39)	missense	possibly damaging	0.69
R0054:Fem1b	UTSW	9	62,704,082 (GRCm39)	missense	probably damaging	1.00
R0054:Fem1b	UTSW	9	62,704,082 (GRCm39)	missense	probably damaging	1.00
R0733:Fem1b	UTSW	9	62,704,125 (GRCm39)	missense	possibly damaging	0.50
R1661:Fem1b	UTSW	9	62,704,556 (GRCm39)	missense	probably damaging	0.96
R1697:Fem1b	UTSW	9	62,704,456 (GRCm39)	missense	possibly damaging	0.56
R2228:Fem1b	UTSW	9	62,704,020 (GRCm39)	nonsense	probably null
R2326:Fem1b	UTSW	9	62,704,285 (GRCm39)	missense	probably damaging	0.98
R3123:Fem1b	UTSW	9	62,703,836 (GRCm39)	missense	probably benign	0.00
R3124:Fem1b	UTSW	9	62,703,836 (GRCm39)	missense	probably benign	0.00
R3125:Fem1b	UTSW	9	62,703,836 (GRCm39)	missense	probably benign	0.00
R4849:Fem1b	UTSW	9	62,704,576 (GRCm39)	missense	probably damaging	1.00
R5749:Fem1b	UTSW	9	62,704,288 (GRCm39)	missense	probably damaging	1.00
R6338:Fem1b	UTSW	9	62,704,293 (GRCm39)	missense	probably benign	0.08
R7036:Fem1b	UTSW	9	62,704,310 (GRCm39)	missense	probably damaging	1.00
R7287:Fem1b	UTSW	9	62,703,404 (GRCm39)	missense	probably benign	0.00
R7538:Fem1b	UTSW	9	62,718,449 (GRCm39)	missense	probably damaging	0.98
R7877:Fem1b	UTSW	9	62,703,844 (GRCm39)	missense	probably benign	0.13
R8079:Fem1b	UTSW	9	62,703,643 (GRCm39)	missense	probably damaging	1.00
R8110:Fem1b	UTSW	9	62,703,550 (GRCm39)	missense	probably damaging	1.00
R8682:Fem1b	UTSW	9	62,704,432 (GRCm39)	nonsense	probably null
R8924:Fem1b	UTSW	9	62,704,916 (GRCm39)	missense	probably damaging	0.99
R9334:Fem1b	UTSW	9	62,703,604 (GRCm39)	nonsense	probably null
R9592:Fem1b	UTSW	9	62,704,959 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAAACCTTCCCGTGTTCTGGG -3'
(R):5'- GGGCTGTCTATGCTGATAACATG -3'

Sequencing Primer
(F):5'- CCAGGTGAATCAGGTTGTAGATC -3'
(R):5'- CTATGCTGATAACATGGAGTTCGAGC -3'

Posted On

2018-08-01